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Disease	Synonyms	Description
Chapare hemorrhagic fever		A viral infectious disease that is a hemorrhagic f..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom shock, and has_symptom bleeding. [-]
coenurosis		A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections. [-]
conidiobolomycosis		An subcutaneous mycosis that is a chronic inflamma..[+] An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions. [-]
congenital hypothyroidism	cretinism	A hypothyroidism that is present at birth.
commensal bacterial infectious disease		A bacterial infectious disease that results_in inf..[+] A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. [-]
Carrion's disease	Carrion disease; Oroya fever	A bartonellosis that results_in infection located_..[+] A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed. [-]
complement factor I deficiency	COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY; C3 .. [+] COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY; C3 INACTIVATOR DEFICIENCY [-]	n_a
campomelic dysplasia	Acampomelic Campomelic Dysplasia	An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur. [-]
Costello syndrome	Faciocutaneoskeletal Syndrome; FCS SYNDROME	A syndrome characterized by craniofacial dysmorpho..[+] A syndrome characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. [-]
Carney complex	Carney Complex, Type 2; Carney Syndrome; Carney Co.. [+] Carney Syndrome; Carney Complex, Type 2; Carney Complex, Type 1; Carney complex variant; LAMB Syndrome; NAME Syndrome [-]	A syndrome characterized by myxomas, spotty pigmen..[+] A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. [-]
congenital stationary night blindness	congenital essential nyctalopia	A hereditary night blindness that is characterized..[+] A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. [-]
Charcot-Marie-Tooth disease type 1	hereditary motor and sensory neuropathy type 1	A Charcot-Marie-Tooth disease characterized by dem..[+] A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. [-]
Charcot-Marie-Tooth disease type 2	hereditary motor and sensory neuropathy Guadalajar.. [+] hereditary motor and sensory neuropathy Guadalajara neuronal type; hereditary motor and sensory neuropathy Okinawa type; hereditary motor and sensory neuropathy type 2 [-]	A Charcot-Marie-Tooth disease characterized by abn..[+] A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. [-]
Charcot-Marie-Tooth disease type 3	DEJERINE-SOTTAS NEUROPATHY; DEJERINE-SOTTAS SYNDRO.. [+] DEJERINE-SOTTAS NEUROPATHY; DEJERINE-SOTTAS SYNDROME [-]	A Charcot-Marie-Tooth disease that is characterize..[+] A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination. [-]
Charcot-Marie-Tooth disease type 4	hereditary motor and sensory neuropathy	A Charcot-Marie-Tooth disease characterized by dem..[+] A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. [-]
Charcot-Marie-Tooth disease type X	COWCK; Cowchock syndrome	A Charcot-Marie-Tooth disease that has_material_ba..[+] A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. [-]
Charcot-Marie-Tooth disease intermediate type	Charcot-Marie-Tooth disease recessive intermediate.. [+] Charcot-Marie-Tooth disease recessive intermediate; Charcot-Marie-Tooth disease dominant intermediate [-]	A Charcot-Marie-Tooth disease characterized by mot..[+] A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. [-]
congenital adrenal insufficiency	ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX .. [+] ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE; P450scc DEFICIENCY [-]	n_a
congenital muscular dystrophy		A muscular dystrophy that is characterized by dimi..[+] A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. [-]
congenital disorder of glycosylation type I	ALG1-CDG (CDG-1k); ALG11-CDG (CDG-1p); ALG12-CDG (.. [+] ALG1-CDG (CDG-1k); ALG11-CDG (CDG-1p); ALG12-CDG (CDG-1g); ALG2-CDG (CDG-1i); ALG3-CDG (CDG-1d); ALG6-CDG (CDG-1c); ALG8-CDG (CDG-1h); ALG9-CDG (CDG-1l); DOLK-CDG (CDG-1m); DPAGT1-CDG (CDG-1j); DPM1-CDG (CDG-1e); DPM2-CDG (CDG-1u); DPM3-CDG (CDG-1o); MPDU1-CDG (CDG-1f); MPI-CDG (CDG-1b); PMM2-CDG (CDG-1a); RFT1-CDG (CDG-1n); SRD5A3-CDG (CDG-1q) [-]	A congenital disorder of glycosylation involve dis..[+] A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. [-]
congenital disorder of glycosylation type II	B4GALT1-CDG (CDG-2d); MGAT2-CDG (CDG-2a); MOGS-CDG.. [+] B4GALT1-CDG (CDG-2d); MGAT2-CDG (CDG-2a); MOGS-CDG (CDG-2b) [-]	A congenital disorder of glycosylation that involv..[+] A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. [-]
cone-rod dystrophy	cone-rod retinal dystrophy	A retinal degeneration that characterized by progr..[+] A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. [-]
congenital generalized lipodystrophy	Beradinelli-Seip syndrome	n_a
congenital bile acid synthesis defect	cholestasis with delta(4)-3-oxosteroid-5-beta-redu.. [+] cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency; CBA; 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency [-]	A steroid inherited metabolic disorder characteriz..[+] A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. [-]
cell type cancer		A cancer that is classified by the type of cell fr..[+] A cancer that is classified by the type of cell from which it is derived. [-]
chorioamnionitis		A placenta disease that is an inflammation of the ..[+] A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. [-]
cardiomyopathy	Cardiomyopathies	A heart disease and a myopathy that is characteriz..[+] A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. [-]
childhood electroclinical syndrome		An electroclinical syndrome with onset in childhoo..[+] An electroclinical syndrome with onset in childhood between one and 12 years of age. [-]
cerebral folate receptor alpha deficiency		A vitamin metabolic disorder that has_material_bas..[+] A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy. [-]
coenzyme Q10 deficiency disease	COENZYME Q10 DEFICIENCY, PRIMARY	A mitochondrial metabolism disease that is charact..[+] A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. [-]
congenital intrinsic factor deficiency	hereditary intrinsic factor deficiency	A vitamin B12 deficiency that is characterized by ..[+] A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. [-]
cerebellar ataxia		A hereditary ataxia that is characterized by ataxi..[+] A hereditary ataxia that is characterized by ataxia originating in the cerebellum. [-]
chorea-acanthocytosis	choreoacanthocytosis; Levine-Critchley syndrome	A neuroacanthocytosis that has_material_basis_in h..[+] A neuroacanthocytosis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21; it is characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life. [-]
cone dystrophy	retinal cone dystrophy	A retinal disease that is characterized by the los..[+] A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. [-]
cerebral creatine deficiency syndrome		n_a
creatine transporter deficiency	CEREBRAL CREATINE DEFICIENCY SYNDROME 1; SLC6A8 de.. [+] CEREBRAL CREATINE DEFICIENCY SYNDROME 1; SLC6A8 deficiency [-]	n_a
congenital adrenal hyperplasia	congenital lipoid adrenal hyperplasia; adrenal hyp.. [+] congenital lipoid adrenal hyperplasia; adrenal hyperplasia 1; lipoid CAH [-]	A steroid inherited metabolic disorder that is cha..[+] A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency. [-]
CHARGE syndrome	CHARGE association	A syndrome that is acterized by a pattern of conge..[+] A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. [-]
cervical dystonia	spasmodic torticollis	A focal dystonia that is characterized by simultan..[+] A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards. [-]
cranio-facial dystonia		A focal dystonia that is characterized as dystonia..[+] A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. [-]
chronic venous insufficiency		n_a
colorectal adenoma		An intestinal benign neoplasm that has_material_ba..[+] An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum. [-]
colorectal adenocarcinoma		A colorectal carcinoma that derives_from epithelia..[+] A colorectal carcinoma that derives_from epithelial cells of glandular origin. [-]
Caroli disease		A bile duct disease that is characterized by abnor..[+] A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts. [-]
corpus callosum oligodendroglioma		A brain oligodendroglioma located_in the corpus ca..[+] A brain oligodendroglioma located_in the corpus callosum. [-]
conjunctival nevus		A sensory organ benign neoplasm that is located in..[+] A sensory organ benign neoplasm that is located in the eye conjunctiva. [-]
cecum adenoma	caecum adenoma	A cecal benign neoplasm that has_material_basis_in..[+] A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. [-]
colon adenoma		A colonic benign neoplasm that has_material_basis_..[+] A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. [-]
cervical neuroblastoma		An extracranial neuroblastoma that has_material_ba..[+] An extracranial neuroblastoma that has_material_basis_in immature nerve cells. [-]
Charlevoix-Saguenay spastic ataxia		n_a

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